ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.126dup (p.Leu43fs)

dbSNP: rs2045934591
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352928 SCV001547551 pathogenic Epidermolysis bullosa dystrophica 2016-01-25 criteria provided, single submitter research

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